Homo sapiens Gene: ADAMTSL2

Summary
InnateDB Gene IDBG-91475.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol ADAMTSL2
Gene Name ADAMTS-like 2
Synonyms GPHYSD1
Species Homo sapiens
Ensembl Gene ENSG00000197859
Encoded Proteins
IDBP-91477 ADAMTS-like 2
IDBP-244393 ADAMTS-like 2
IDBP-244395 ADAMTS-like 2
Entrez Gene
Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 9: 136397286-136440641
Strand Forward strand
Band q34.2
Transcripts
ENST00000354484  ENSP00000346478
ENST00000393061  ENSP00000376781
ENST00000393060  ENSP00000376780
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein‑Protein  2
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000036040 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000007492 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q86TH1 
TrEMBL A8MZ67 B1B0D4
UniProt Splice Variant
Entrez Gene 100996396  9719 
UniGene Hs.522543 Hs.632697
RefSeq NM_001145320  NM_014694  XM_003846429 
HUGO 14631 
OMIM 612277
CCDS CCDS6976 
HPRD 11096
IMGT
EMBL AB011177 BC050544 BX324209 BX629352 BX649571
GenPept AAH50544  BAA25531  CAI17317  CAI18773  CAI23592  CAM24586  CAM26559 
ImmGen ADAMTSL2 (murine) 
RNA Seq Atlas 100996396  9719